{
    "disease_id": "DOID:0080491",
    "recommended_name": {
        "id": "DOID:0080491",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080491",
        "name": "cerebral cavernous malformation 1",
        "description": "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0020724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020724",
            "name": "cerebral cavernous malformation 1",
            "description": ""
        },
        {
            "id": "MONDO:0020724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020724",
            "name": "cerebral cavernous malformation 1",
            "description": ""
        },
        {
            "id": "MONDO:0020724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020724",
            "name": "cerebral cavernous malformations-1",
            "description": ""
        },
        {
            "id": "MONDO:0020724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020724",
            "name": "familial cerebral cavernous malformation 1",
            "description": ""
        },
        {
            "id": "MONDO:0020724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020724",
            "name": "CCM",
            "description": ""
        },
        {
            "id": "MONDO:0020724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020724",
            "name": "cerebral cavernous malformations",
            "description": ""
        },
        {
            "id": "MIM:116860",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/116860",
            "name": "Cerebral cavernous malformations 1",
            "description": "Cerebral cavernous malformations 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080491"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080491",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080491",
            "categories": []
        },
        {
            "id": "MONDO:0020724",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020724",
            "categories": []
        },
        {
            "id": "MIM:116860",
            "database": "MIM",
            "url": "https://www.omim.org/entry/116860",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1REV3-1",
            "uniprot_ac": "F1REV3",
            "uniprot_id": "KRIT1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Krev interaction trapped protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cerebral cavernous malformations 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Krev interaction trapped 1",
                    "type": "synonym"
                },
                {
                    "name": "Santa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "krit1",
                    "type": "recommended"
                },
                {
                    "name": "ccm1",
                    "type": "synonym"
                },
                {
                    "name": "fb36f07",
                    "type": "synonym"
                },
                {
                    "name": "santa",
                    "type": "synonym"
                },
                {
                    "name": "san",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb36f07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63585",
                    "type": "synonym"
                }
            ],
            "record_id": "F1REV3-1",
            "evidence": [
                {
                    "id": "0080491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1RE08-1",
            "uniprot_ac": "F1RE08",
            "uniprot_id": "PTGIS_DANRE",
            "refseq_ac": "NP_001104630",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostacyclin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.3.99.4",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "PGIS",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin I2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "prostacyclin synthase",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin I2 (prostacyclin) synthase like",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin I2 synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptgis",
                    "type": "recommended"
                },
                {
                    "name": "PGIS",
                    "type": "synonym"
                },
                {
                    "name": "ptgisl",
                    "type": "synonym"
                },
                {
                    "name": "ptgis",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RE08-1",
            "evidence": [
                {
                    "id": "0080491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6S5J6-1",
            "uniprot_ac": "Q6S5J6",
            "uniprot_id": "KRIT1_MOUSE",
            "refseq_ac": "NP_001164023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Krev interaction trapped protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cerebral cavernous malformations 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Krev interaction trapped 1",
                    "type": "synonym"
                },
                {
                    "name": "Krev interaction trapped protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "krev interaction trapped 1",
                    "type": "synonym"
                },
                {
                    "name": "krev interaction trapped protein 1 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Krit1",
                    "type": "recommended"
                },
                {
                    "name": "2010007K12Rik",
                    "type": "synonym"
                },
                {
                    "name": "A630036P20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccm1",
                    "type": "synonym"
                },
                {
                    "name": "Krit1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6S5J6-1",
            "evidence": [
                {
                    "id": "0080491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35074-1",
            "uniprot_ac": "O35074",
            "uniprot_id": "PTGIS_MOUSE",
            "refseq_ac": "NP_032994",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Prostacyclin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.3.99.4",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin I2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "prostacyclin synthase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "prostacyclin synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptgis",
                    "type": "recommended"
                },
                {
                    "name": "Cyp8a1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp8",
                    "type": "synonym"
                },
                {
                    "name": "Pgis",
                    "type": "synonym"
                },
                {
                    "name": "Ptgis",
                    "type": "synonym"
                }
            ],
            "record_id": "O35074-1",
            "evidence": [
                {
                    "id": "0080491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00522-1",
            "uniprot_ac": "O00522",
            "uniprot_id": "KRIT1_HUMAN",
            "refseq_ac": "NP_001013424",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Krev interaction trapped protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cerebral cavernous malformations 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Krev interaction trapped 1",
                    "type": "synonym"
                },
                {
                    "name": "ankyrin repeat-containing protein Krit1",
                    "type": "synonym"
                },
                {
                    "name": "cerebral cavernous malformations 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "krev interaction trapped 1",
                    "type": "synonym"
                },
                {
                    "name": "krev interaction trapped protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "krev interaction trapped protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KRIT1",
                    "type": "recommended"
                },
                {
                    "name": "CAM",
                    "type": "synonym"
                },
                {
                    "name": "CCM1",
                    "type": "synonym"
                },
                {
                    "name": "KRIT1",
                    "type": "synonym"
                }
            ],
            "record_id": "O00522-1",
            "evidence": [
                {
                    "id": "116860",
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                    "url": "https://www.omim.org/entry/116860"
                },
                {
                    "id": "0080491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8Z6-1",
            "uniprot_ac": "G3V8Z6",
            "uniprot_id": "G3V8Z6_RAT",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Krev interaction trapped protein 1",
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                },
                {
                    "name": "krev interaction trapped protein 1",
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                }
            ],
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                {
                    "name": "Krit1",
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                },
                {
                    "name": "Krit1",
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                },
                {
                    "name": "RGD1305929",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q62969-1",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Prostacyclin synthase",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
                },
                {
                    "name": "5.3.99.4",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin I2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "prostacyclin synthase",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin I2 (prostacyclin) synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07054614.1",
                    "type": "recommended"
                },
                {
                    "name": "Ptgis",
                    "type": "recommended"
                },
                {
                    "name": "AABR07054614.1",
                    "type": "synonym"
                },
                {
                    "name": "Cyp8",
                    "type": "synonym"
                },
                {
                    "name": "PGIS",
                    "type": "synonym"
                },
                {
                    "name": "Ptgis",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080491",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03468-1",
            "uniprot_ac": "Q03468",
            "uniprot_id": "ERCC6_HUMAN",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA excision repair protein ERCC-6",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
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                },
                {
                    "name": "ATP-dependent helicase ERCC6",
                    "type": "synonym"
                },
                {
                    "name": "Chimeric CSB-PGBD3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Chimeric ERCC6-PGBD3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome group B protein",
                    "type": "synonym"
                },
                {
                    "name": "Cockayne syndrome protein CSB",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "DNA excision repair protein ERCC-6",
                    "type": "synonym"
                },
                {
                    "name": "ERCC6-PGBD3 fusion protein",
                    "type": "synonym"
                },
                {
                    "name": "cockayne syndrome protein CSB",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementation group 6",
                    "type": "synonym"
                },
                {
                    "name": "excision repair cross-complementing rodent repair deficiency, complementation group 6",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "ERCC6",
                    "type": "recommended"
                },
                {
                    "name": "ARMD5",
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                },
                {
                    "name": "CKN2",
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                {
                    "name": "COFS1",
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                {
                    "name": "COFS",
                    "type": "synonym"
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                {
                    "name": "CSB-PGBD3",
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                {
                    "name": "CSB",
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                {
                    "name": "ERCC6",
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                {
                    "name": "POF11",
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                },
                {
                    "name": "RAD26",
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                {
                    "name": "UVSS1",
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            ],
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                {
                    "id": "0080491",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q16647-1",
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
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                    "name": "Prostacyclin synthase",
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                },
                {
                    "name": "4.2.1.152",
                    "type": "synonym"
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                {
                    "name": "5.3.99.4",
                    "type": "synonym"
                },
                {
                    "name": "Hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "Prostaglandin I2 synthase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, family 8, subfamily A, polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "hydroperoxy icosatetraenoate dehydratase",
                    "type": "synonym"
                },
                {
                    "name": "prostacyclin synthase",
                    "type": "synonym"
                },
                {
                    "name": "prostaglandin I2 (prostacyclin) synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTGIS",
                    "type": "recommended"
                },
                {
                    "name": "CYP8A1",
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                },
                {
                    "name": "CYP8",
                    "type": "synonym"
                },
                {
                    "name": "PGIS",
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                },
                {
                    "name": "PTGIS",
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                },
                {
                    "name": "PTGI",
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                }
            ],
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                {
                    "id": "0080491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080491"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080491"
}